Ke nāwaliwali mālie nei nā ʻiʻo o kāu keiki? E aʻo kākou e pili ana i ka Duchenne Muscular Dystrophy!

Ua hoʻomaka anei kāu keiki liʻiliʻi e hele ma hope o nā keiki ʻē aʻe? A i ʻole hāʻule mau ʻo ia? Ua ʻike anei ʻoe he paʻakikī iā ia ke ala aʻe mai kahi noho a piʻi paha i ke alapiʻi? ʻO kēia nā mea a mākou e nānā ʻole ai i kekahi manawa ma ke ʻano he mau mākua. Akā i kekahi manawa hiki i kēia ke lilo i mau hōʻailona mua o kahi maʻi e like me Duchenne Muscular Dystrophy. No laila e kamaʻilio kākou e pili ana i kēia i kēia lā. Mai makaʻu, ʻo ka mea nui loa ka makaʻala i kēia.

He aha ka Duchenne Muscular Dystrophy (DMD)?

I ka ʻōlelo maʻalahi, ʻo ka 'muscular dystrophy' he hui o nā maʻi e hoʻonāwaliwali i nā ʻiʻo i ka hala ʻana o ka manawa a hōʻemi i ko lākou palupalu. ʻO ke ʻano maʻamau o kēia ʻo Duchenne muscular dystrophy, a mākou e kapa nei he DMD no ka pōkole.

ʻO kēia ma muli o kahi kīnā i loko o kahi gene e kōkua ai i ka mālama ʻana i ko mākou mau ʻiʻo i ke olakino. E noʻonoʻo i ko mākou mau ʻiʻo e like me ka pā pōhaku. ʻO ka mortar e hoʻopaʻa pū ana i kēia mau pōhaku he protein i kapa ʻia ʻo dystrophin . I nā keiki me DMD, ʻaʻole hana ke kino i kēia protein dystrophin, a i ʻole hana iki ia. A laila, e like me ka pā me ka ʻole o ka mortar, ua maʻalahi ka hōʻino ʻia o nā ʻiʻo a nāwaliwali mālie.

ʻO kēia maʻi ka mea maʻamau i nā keikikāne . ʻIke pinepine ʻia nā hōʻailona i ka wā kamaliʻi. I ka wā mua, hiki ke paʻakikī ke kū, hele, a piʻi i nā alapiʻi. I ka hala ʻana o ka manawa, pono paha kekahi mau keiki e hoʻohana i ka noho huila. Hiki ke hoʻopilikia ʻia ka puʻuwai a me nā māmā.

He aha nā hōʻailona? Pehea ʻoe e ʻike ai?

Inā loaʻa i kāu keiki ka DMD, e ʻike pinepine ʻoe i nā hōʻailona mua ma mua o ka piha ʻana o 6 makahiki. Hoʻopilikia mua ʻia nā ʻiʻo o nā wāwae. ʻO ia ke kumu e hoʻomaka ai kēia mau keiki e hele ma hope o nā keiki ʻē aʻe. Ma hope o ko lākou hoʻomaka ʻana e hele, hāʻule pinepine lākou, paʻakikī ke ala aʻe mai ka papahele, a paʻakikī hoʻi ke piʻi i nā alapiʻi. Ma hope o kekahi manawa, hoʻomaka paha lākou e hele wāwae a hele paha ma nā wēlau o ko lākou mau manamana wāwae.

I ka ulu ʻana o ke keiki, ʻoi aku paha ka nui o nā hōʻailona e ʻike ʻia.

Akā e hoʻomanaʻo, ʻaʻole ʻeha pinepine ka DMD, a ʻaʻole ia e hoʻopilikia i ka naʻauao o ke keiki.

Pehea e ʻike pono ai i ka maʻi?

Inā ʻike ʻoe i kēia mau hōʻailona i kāu keiki, ʻo ka mea maikaʻi loa e hana ai, ʻo ia ke ʻike koke i kāu kauka ʻohana . E nīnau ʻo ia iā ʻoe e pili ana i nā hōʻailona o kāu keiki. A laila e nānā ʻo ia i ke keiki a, inā pono, e kuhikuhi iā ʻoe no kekahi mau hoʻokolohua.

Nā hoʻāʻo e hana ʻia inā he kānalua ko ke kauka

• Nā hoʻāʻo koko: Nānā nui kēia i kahi enzyme i kapa ʻia ʻo Creatine Kinase (CK) . Hoʻokuʻu ʻia kēia enzyme CK i loko o ke koko ke hōʻino ʻia nā ʻiʻo. No laila, inā kiʻekiʻe loa ka pae CK, he hōʻailona nui ia ua loaʻa iā ʻoe ʻo DMD.
• Nā hoʻāʻo Gene: Hiki i kēia hoʻāʻo, hiki ke hana ʻia me kahi hāpana koko, ke hoʻoholo pololei inā he kīnā i loko o ka gene dystrophin e hoʻoulu ai i ka DMD. Hiki ke hana ʻia kēia hoʻāʻo e ʻike inā loaʻa i nā hoahānau wahine kēia gene (he mau mea lawe i ka maʻi).
• ʻO ka biopsy ʻiʻo:Maanei, ua lawe ʻia kahi ʻāpana liʻiliʻi loa o ke kino o ke keiki me kahi nila liʻiliʻi loa a nānā ʻia ma lalo o kahi microscope. Hiki ke hōʻoia ʻia inā haʻahaʻa ka pae o ka protein dystrophin. Eia nō naʻe, ma muli o ka hoʻāʻo ʻana i ka genetic holomua i kēia lā, ʻaʻole pono kēia hoʻāʻo i ka hapa nui o nā hihia.

He aha nā lāʻau lapaʻau?

ʻAʻohe lāʻau lapaʻau no DMD i kēia manawa. Eia nō naʻe, he nui nā lāʻau lapaʻau kūpono e kāohi i nā hōʻailona a pale i nā ʻiʻo, ka puʻuwai, a me nā māmā.

• Corticosteroids: Hiki i nā lāʻau lapaʻau e like me Prednisone lāua ʻo Deflazacort ke kōkua i ka kaohi ʻana i ka hōʻino ʻana o nā ʻiʻo i kahi nui. Hiki i nā keiki e lawe ana i kēia mau lāʻau lapaʻau ke hele no 2-5 mau makahiki ma mua o ka poʻe ʻaʻole. Kōkua pū lākou i ka hana maikaʻi ʻana o ka puʻuwai a me nā māmā.
• Nā Lāʻau Lapaʻau Hou: I kēia lā, ua hoʻolauna ʻia kekahi mau lāʻau lapaʻau i kuhikuhi ʻia ma muli o ke ʻano o ke kīnā genetic e hoʻoulu ai i ka DMD. ʻO kekahi o nā lāʻau lapaʻau ʻo Eteplirsen, Golodirsen, a me Casimersen. Kōkua kēia mau mea i ka hoʻihoʻi ʻana i ka protein dystrophin i nalowale i kahi pae.
• ʻO ka lāʻau lapaʻau gene: (Delandistrogene moxeparvovec - Elevidys) ka lāʻau lapaʻau gene mua i ʻāpono ʻia no kēia kumu. Pili ia i ka hāʻawi ʻana i ke kino i kahi protein ʻē aʻe e pani hapa ana i ka hana o ka protein dystrophin. He mau lāʻau lapaʻau hou loa kēia a pipiʻi hoʻi.
• ʻŌlelo Aʻo no ke Kauka Puʻuwai: Hiki i nā keiki DMD ke loaʻa nā pilikia puʻuwai, no laila he mea nui nā nānā mau ʻana me ke kauka puʻuwai . Hiki i kekahi mau lāʻau lapaʻau koko ke kōkua i ka pale ʻana i nā ʻiʻo puʻuwai.
• Lapaʻau kino: Hiki i ka hoʻoikaika kino a me nā kīkoʻo ke kōkua i ka mālama ʻana i nā ʻiʻo a me nā hono i palupalu. He mea nui e ʻimi i ka ʻōlelo aʻo a kahi physiotherapist no kēia.
• ʻOki kino: I kekahi mau hihia, pono paha ke ʻoki kino e hoʻoponopono i nā ʻiʻo paʻa (contractures) a e hoʻoponopono i ke kūlou ʻana o ka iwi kuamoʻo (scoliosis).

Nā mea hiki iā ʻoe ke hana ma ke ʻano he mau mākua

He mea maʻamau ke kaumaha ke ʻike ʻoe ua loaʻa i kāu keiki kahi maʻi e like me DMD. Akā e hoʻomanaʻo, ʻo ka loaʻa ʻana o kēia maʻi ʻaʻole ia he manaʻo ʻaʻole hiki i kāu keiki ke hele i ke kula, pāʻani me nā hoaaloha, a hauʻoli paha. Ma ka hahai ʻana i ka hoʻolālā lapaʻau kūpono, hiki iā ʻoe ke kōkua i kāu keiki e ola i kahi ola hana.

• E kōkua iā lākou e kū a hele i ka hiki: Kōkua kēia i ka mālama ʻana i ko lākou mau iwi i ikaika a me ko lākou iwi kuamoʻo i pololei. Inā pono, hiki iā ʻoe ke hoʻohana i nā mea e like me nā `braces` a i ʻole nā ​​`standing walkers`.
• E hoʻolako i ka meaʻai maikaʻi:ʻAʻohe papaʻai kikoʻī no DMD. Eia nō naʻe, hiki i ka papaʻai olakino ke kōkua i ka kaohi ʻana i ke kaumaha a pale i nā mea e like me ka paʻa ʻana o ka ʻōpū. E kamaʻilio me kahi meaʻai meaʻai e hana i kahi papaʻai e kūpono i kāu keiki.
• E hoʻomau i ka hana: E ʻimi i ka ʻōlelo aʻo mai kahi mea hoʻoponopono kino a hoʻokomo i kāu keiki i nā hoʻomaʻamaʻa palekana e ʻole ai e hoʻoluhi i nā ʻiʻo.
• E ikaika pū kekahi: ʻO ke kamaʻilio ʻana me nā ʻohana ʻē aʻe me nā keiki e like me kēia a me ka kaʻana like ʻana i nā ʻike e lilo ia i kumu ikaika nui nou. E hui pū me nā hui kākoʻo no kēlā. Inā pono, mai kānalua e ʻimi i ke kōkua o kahi psychologist.

I ka hopena, he paʻakikī ke ola me ka DMD. Akā me ka mālama pono ʻana i ke olakino, ka hoʻōla kino, ka meaʻai, a me ka mālama aloha, hiki i kēia mau keiki ke ola i nā ola holomua a hauʻoli e like me nā poʻe ʻē aʻe o ke kaiāulu o kēia wā. Loaʻa iā mākou āpau ka manaʻolana me ka holomua o ka ʻepekema, e puka mai ana nā lāʻau lapaʻau maikaʻi aʻe i ka wā e hiki mai ana.